2018
Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors
Bey AL, Wang X, Yan H, Kim N, Passman RL, Yang Y, Cao X, Towers AJ, Hulbert SW, Duffney LJ, Gaidis E, Rodriguiz RM, Wetsel WC, Yin HH, Jiang YH. Brain region-specific disruption of Shank3 in mice reveals a dissociation for cortical and striatal circuits in autism-related behaviors. Translational Psychiatry 2018, 8: 94. PMID: 29700290, PMCID: PMC5919902, DOI: 10.1038/s41398-018-0142-6.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutism Spectrum DisorderBehavior, AnimalCorpus StriatumDisease Models, AnimalExcitatory Postsynaptic PotentialsHippocampusHomer Scaffolding ProteinsMice, KnockoutMicrofilament ProteinsNerve Tissue ProteinsNeuronsPhenotypeProsencephalonReceptors, Dopamine D1Receptors, Dopamine D2Receptors, N-Methyl-D-AspartateSocial BehaviorSynapsesConceptsDeletion of Shank3Brain regionsAutism-related behaviorsWhole-cell patch recordingsGluN2B-containing NMDARsShank3 mutant miceHomer1b/cRegion-specific disruptionRespective brain regionsNeural circuit mechanismsSpecific brain regionsASD-like behaviorsStriatal lossStriatal neuronsElectrophysiological findingsExcitatory neuronsHippocampal neuronsCell type-specific rolesInhibitory neuronsASD-related behaviorsStriatal circuitsSHANK3 deletionStriatal D1Excessive groomingPatch recordings
2009
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome
Su H, Fan W, Coskun PE, Vesa J, Gold JA, Jiang YH, Potluri P, Procaccio V, Acab A, Weiss JH, Wallace DC, Kimonis VE. Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neuroscience Letters 2009, 487: 129-133. PMID: 19563863, PMCID: PMC2888840, DOI: 10.1016/j.neulet.2009.06.079.Peer-Reviewed Original ResearchConceptsWild-type littermatesAngelman syndromeMaternal UBE3A alleleMitochondrial dysfunctionCA1 hippocampal neuronsSynaptic vesicle densityWhole brain mitochondriaDeficient mouse modelUbiquitin protein ligase E3ASevere neurological disordersAS miceHippocampal neuronsHippocampal regionMouse modelOxidative phosphorylationNeurological disordersBrain mitochondriaSyndromeMiceVesicle densityPathophysiologyDysfunctionDense mitochondriaLittermatesUBE3A
1998
Imprinting in Angelman and Prader-Willi syndromes
Jiang Y, Tsai T, Bressler J, Beaudet A. Imprinting in Angelman and Prader-Willi syndromes. Current Opinion In Genetics & Development 1998, 8: 334-342. PMID: 9691003, DOI: 10.1016/s0959-437x(98)80091-9.Peer-Reviewed Original ResearchConceptsE6-AP ubiquitin-protein ligaseUbiquitin-protein ligaseAnalysis of methylationTissue-specific imprintingAngelman syndromeSNRPN promoterPrader-Willi syndromeAS genesMaternal chromosomesGene expressionGenomic sequencingPoint mutationsGenesBisulfite methodMethylationCandidate regionsImprintingHippocampal neuronsDrosophilaNecdinSNRPNLigaseChromosomesPromoterPurkinje cells